SMABF1
MCID: SPN400
MIFTS: 24

Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (SMABF1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards integrated aliases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

Name: Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 57
Spinal Muscular Atrophy with Congenital Bone Fractures 1 57 75 29 6
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 53 29
Smabf1 57 75
Atrophy, Muscular, Spinal, with Congenital Bone Fractures, Type 1 40
Sma1 with Congenital Bone Fractures 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spinal muscular atrophy with congenital bone fractures 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

spinal muscular atrophy, type i, with congenital bone fractures:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

UniProtKB/Swiss-Prot : 75 Spinal muscular atrophy with congenital bone fractures 1: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.

MalaCards based summary : Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures, is also known as spinal muscular atrophy with congenital bone fractures 1. An important gene associated with Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include bone and heart, and related phenotypes are hypertelorism and pectus excavatum

Description from OMIM: 271225 616866

Related Diseases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Symptoms via clinical synopsis from OMIM:

57
Neuro:
acute infantile spinal muscular atrophy

Skel:
congenital bone fractures


Clinical features from OMIM:

271225 616866

Human phenotypes related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

32 (show all 43)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 very rare (1%) HP:0000316
2 pectus excavatum 32 HP:0000767
3 high palate 32 very rare (1%) HP:0000218
4 osteopenia 32 HP:0000938
5 muscle weakness 32 very rare (1%) HP:0001324
6 dysphagia 32 very rare (1%) HP:0002015
7 global developmental delay 32 very rare (1%) HP:0001263
8 flexion contracture 32 HP:0001371
9 decreased muscle mass 32 HP:0003199
10 patent ductus arteriosus 32 very rare (1%) HP:0001643
11 respiratory distress 32 HP:0002098
12 congestive heart failure 32 very rare (1%) HP:0001635
13 hypohidrosis 32 very rare (1%) HP:0000966
14 cardiomyopathy 32 very rare (1%) HP:0001638
15 arthrogryposis multiplex congenita 32 very rare (1%) HP:0002804
16 congenital hip dislocation 32 HP:0001374
17 arachnodactyly 32 HP:0001166
18 narrow mouth 32 very rare (1%) HP:0000160
19 areflexia 32 very rare (1%) HP:0001284
20 oligohydramnios 32 very rare (1%) HP:0001562
21 decreased fetal movement 32 very rare (1%) HP:0001558
22 microretrognathia 32 very rare (1%) HP:0000308
23 muscle fiber atrophy 32 very rare (1%) HP:0100295
24 premature birth 32 very rare (1%) HP:0001622
25 multiple prenatal fractures 32 very rare (1%) HP:0005855
26 severe muscular hypotonia 32 very rare (1%) HP:0006829
27 pulmonary hypoplasia 32 very rare (1%) HP:0002089
28 increased variability in muscle fiber diameter 32 very rare (1%) HP:0003557
29 generalized hypotonia 32 HP:0001290
30 secundum atrial septal defect 32 very rare (1%) HP:0001684
31 generalized amyotrophy 32 HP:0003700
32 peripheral axonal neuropathy 32 HP:0003477
33 rocker bottom foot 32 HP:0001838
34 neonatal respiratory distress 32 very rare (1%) HP:0002643
35 patent foramen ovale 32 very rare (1%) HP:0001655
36 axonal loss 32 HP:0003447
37 hypertrichosis 32 HP:0000998
38 degeneration of anterior horn cells 32 HP:0002398
39 generalized edema 32 HP:0007430
40 lack of spontaneous play 32 HP:0000721
41 diaphragmatic eventration 32 HP:0009110
42 spinal muscular atrophy 32 HP:0007269
43 acute infantile spinal muscular atrophy 32 HP:0007280

Drugs & Therapeutics for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic Tests for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic tests related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 29
2 Spinal Muscular Atrophy with Congenital Bone Fractures 1 29 TRIP4

Anatomical Context for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

41
Bone, Heart

Publications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP4 NM_016213.4(TRIP4): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs869312827 GRCh37 Chromosome 15, 64698591: 64698591
2 TRIP4 NM_016213.4(TRIP4): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs869312827 GRCh38 Chromosome 15, 64406392: 64406392
3 TRIP4 NM_016213.4(TRIP4): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs761865592 GRCh37 Chromosome 15, 64701816: 64701816
4 TRIP4 NM_016213.4(TRIP4): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs761865592 GRCh38 Chromosome 15, 64409617: 64409617

Expression for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures.

Pathways for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

GO Terms for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Sources for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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